换一批
换一批Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
第一作者：
Lianshu,Han
第一单位：
Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine, Shanghai, China.
作者：
主题词
乙酰肉碱(Acetylcarnitine);酸中毒(Acidosis);无症状疾病(Asymptomatic Diseases);羧基裂合酶类(Carboxy-Lyases);肉碱(Carnitine);载体蛋白质类(Carrier Proteins);儿童(Child);柠檬酸盐类(Citrates);女(雌)性(Female);基因表达(Gene Expression);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);丙二酸盐类(Malonates);丙二酰辅酶A(Malonyl Coenzyme A);代谢缺陷, 先天性(Metabolism, Inborn Errors);甲基丙二酸(Methylmalonic Acid);甲基丙二酸单酰CoA变位酶(Methylmalonyl-CoA Mutase);突变(Mutation);新生儿筛查(Neonatal Screening);氧化还原酶类(Oxidoreductases)
DOI
10.1002/ajmg.a.37147
PMID
25982642
发布时间
2022-12-07
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